Changes in signalling pathways in the palatal cleft in CL/Fr mice

Publication date: Available online 16 January 2020Source: Journal of Oral and Maxillofacial Surgery, Medicine, and PathologyAuthor(s): Akane Yamada, Takahiro Nagai, Atsushi Kitamura, Maiko Kawasaki, Katsushige Kawasaki, Yasumitsu Kodama, Takeyasu Maeda, Atsushi Ohazama, Ritsuo TakagiAbstractCleft palate is one of the most common congenital diseases. Therefore, elucidating the molecular mechanisms of palate development is crucial for basic science and the clinical field. Cleft palate in mouse with targeted gene mutation is an excellent experimental model for clarifying the mechanisms driving palate development. Cleft palate occurs in two forms: a cleft between the primary and secondary palates (primary cleft palate) and a cleft between the secondary palates (secondary cleft palate). It remains unclear whether primary palate development is under similar molecular control as secondary palate formation, since most of studies have focused on secondary palate development using mutant mice. CL/Fraser (CL/Fr) is a mouse strain that often exhibits spontaneous primary cleft palate; however, the molecular changes in primary cleft palate in CL/Fr mice are not fully understood. Several signaling pathways, including Shh, Fgf, Bmp, and Wnt signaling, have been shown to play key roles in secondary palate development. In the present study, we found that Shh and Wnt signaling pathways were downregulated in the primary cleft palate region in CL/Fr mice.
Source: Journal of Oral and Maxillofacial Surgery, Medicine, and Pathology - Category: ENT & OMF Source Type: research

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CONCLUSIONS: These new genetic variants will add to the spectrum of known OFD1 mutations associated with the OFD1 disorder. Our study also confirms the variable phenotypic presentation of OFD1 and its well-recognized association with central nervous system malformations and renal anomalies. Molecular diagnostic confirmation achieved in these families will have positive implications for their medical management. PMID: 32064904 [PubMed - as supplied by publisher]
Source: The Cleft Palate-Craniofacial Journal - Category: ENT & OMF Authors: Tags: Cleft Palate Craniofac J Source Type: research
ConclusionsUnsurprisingly, both the inpatient and outpatient burdens of care are influenced by the complexity of the cleft and increase with worsening severity. Our results will help inform parents of the likely trajectory their child will face when diagnosed with each subtype of cleft. The 2014 data shows that modern cleft care is changing; a combination of reduced hospital stay and the addition of streamlined outpatient appointments will both be of great benefit. The influence of modern day life will hopefully reduce the associated burden that has been highlighted in this paper and it is vital the benefits of modernisati...
Source: European Journal of Plastic Surgery - Category: Cosmetic Surgery Source Type: research
Publication date: Available online 12 February 2020Source: Meta GeneAuthor(s): Ginila T. Raju, Bhaskar V.K.S. Lakkakula, Jyotsna Murthy, Solomon F.D. PaulAbstractPlatelet derived growth factor -c (PDGF-C) plays a major role in embryogenesis especially during the neural crest cell induction. Animal studies revealed that PDGF signalling is required for orofacial development. Further, Pdgfc knockout mice also showed cleft face phenotype. The present study aims to evaluate the parental transmission effect of PDGF-C gene variants in the etiology of non-syndromic cleft lip with or without cleft palate (NSCL/P) in South Indian po...
Source: Meta Gene - Category: Genetics & Stem Cells Source Type: research
Abstract OBJECTIVE: To translate and validate the velopharyngeal insufficiency (VPI) effects on life outcomes (VELO) instrument into Nepali, and test its internal consistency and validity. DESIGN: Quality-of-life instrument translation and validation. SETTING: Community served by Nepal's craniofacial referral hospital. PARTICIPANTS: Twenty-three postpalatoplasty children with VPI, 19 family guardians of VPI cases, and 29 non-VPI controls. INTERVENTIONS: The VELO instrument was translated to Nepali by 2 independent bilingual translators, reconciled, backward-translated, compared, and modified us...
Source: The Cleft Palate-Craniofacial Journal - Category: ENT & OMF Authors: Tags: Cleft Palate Craniofac J Source Type: research
Abstract OBJECTIVE: To test for systematic age changes in cleft children based on dental age. DESIGN: Retrospective case-control longitudinal study. SETTING: One orthodontic solo practice. PATIENTS: Nonsyndromic, complete cleft lip and palateCLP cases, either unilateral or bilateral (102 children; 370 radiographs), between 4 and 16 years of age. INTERVENTIONS: Children were treated with a team approach, but only orthodontic radiographs were studied. MAIN OUTCOME MEASURE: The principal outcome measure was dental age of the cleft cases compared to a sex-specific sample of phenotypically norm...
Source: The Cleft Palate-Craniofacial Journal - Category: ENT & OMF Authors: Tags: Cleft Palate Craniofac J Source Type: research
CONCLUSION: Most participants liked completing the CLEFT-Q, but a small minority reported a negative impact. When used in clinical practice, CLEFT-Q scale scores should be examined as soon as possible after completion in order that the clinical team might identify patients who might require additional support. PMID: 32048868 [PubMed - as supplied by publisher]
Source: The Cleft Palate-Craniofacial Journal - Category: ENT & OMF Authors: Tags: Cleft Palate Craniofac J Source Type: research
CONCLUSIONS: The results of the national survey showed no consensus on routine use of preoperative vascular imaging. Our retrospective study showed a 30% prevalence of medialized ICAs in our patient cohort. In these patients, the MRA findings influenced the choice of speech surgery. PMID: 32041422 [PubMed - as supplied by publisher]
Source: The Cleft Palate-Craniofacial Journal - Category: ENT & OMF Authors: Tags: Cleft Palate Craniofac J Source Type: research
CONCLUSIONS: The patients with the smaller nasopharyngeal areas presented identical PRESO and POSSO results when compared to those with larger nasopharyngeal sizes. Future studies should address the possible association between prepalatoplasty and postpalatoplasty TNAs and the occurrence of velopharyngeal deficiency later in life. PMID: 32041415 [PubMed - as supplied by publisher]
Source: The Cleft Palate-Craniofacial Journal - Category: ENT & OMF Authors: Tags: Cleft Palate Craniofac J Source Type: research
Abstract The formation of the craniofacial skeleton is a highly dynamic process that requires proper orchestration of various cellular processes in cranial neural crest cell (cNCC) development, including cell migration, proliferation, differentiation, polarity and cell death. Alterations that occur during cNCC development result in congenital birth defects and craniofacial abnormalities such as cleft lip with or without cleft palate. While the gene regulatory networks facilitating neural crest development have been extensively studied, the epigenetic mechanisms by which these pathways are activated or repressed in...
Source: Developmental Biology - Category: Biology Authors: Tags: Dev Biol Source Type: research
ConclusionA sustained and consistent visiting team approach providing repair of cleft lip and palate defects has resulted in considerable economic gain for Timor Leste over an 18-year period. The training of a local surgeon and multidisciplinary team with ongoing support to the in-country cleft service is expected to reduce the cost per DALY averted once the surgeon and team are able to manage clefts independently.
Source: World Journal of Surgery - Category: Surgery Source Type: research
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